Canonical Allele Identifier: CA1715316

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 426619
• ClinVar RCV Id: RCV000489710 ; RCV001088400 ; RCV002329166 ; RCV001172500 ; RCV002282171
• dbSNP Id: rs199874928
• ExAC: 2:73827901 A / G
• gnomAD v2: 2-73827901-A-G
• gnomAD v3: 2-73600774-A-G
• gnomAD v4: 2-73600774-A-G
• MyVariant Identifiers: chr2:g.73827901A>G (hg19) ; chr2:g.73600774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73600774A>G , CM000664.2:g.73600774A>G	GRCh38
NC_000002.11:g.73827901A>G , CM000664.1:g.73827901A>G	GRCh37
NC_000002.10:g.73681409A>G	NCBI36
NG_011690.1:g.220022A>G , LRG_741:g.220022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11384A>G	ENSP00000507671.1:p.Asn3795Ser
ENST00000682801.1:c.11167-1411A>G	ENSP00000507862.1:n.11167-1411A>G
ENST00000682859.1:c.11384A>G	ENSP00000508222.1:p.Asn3795Ser
ENST00000683791.1:c.4470A>G
ENST00000684460.1:c.8665A>G
ENST00000684548.1:c.11384A>G	ENSP00000507421.1:p.Asn3795Ser
ENST00000684590.1:c.5831A>G	ENSP00000507376.1:p.Asn1944Ser
ENST00000684656.1:c.8849A>G
ENST00000613296.6:c.11765A>G MANE Select	ENSP00000482968.1:p.Asn3922Ser
ENST00000651057.1:c.1919A>G	ENSP00000498504.1:p.Asn640Ser
ENST00000651434.1:c.3121A>G
ENST00000651750.1:c.1153A>G
ENST00000652487.1:c.2936A>G
ENST00000484298.5:c.11639A>G	ENSP00000478155.1:p.Asn3880Ser
ENST00000613296.4:c.11765A>G	ENSP00000482968.1:p.Asn3922Ser
ENST00000620466.4:n.5568A>G
NM_015120.4:c.11768A>G , LRG_741t1:c.11768A>G	NP_055935.4:p.Asn3923Ser
NM_001378454.1:c.11765A>G MANE Select	NP_001365383.1:p.Asn3922Ser